A Genotype/Phenotype Study of

Humans Mutation, Missense Jumonji Domain-Containing Histone Demethylases / genetics Female Male Child Child, Preschool Phenotype Adolescent Adult Genetic Association Studies Intellectual Disability / genetics Retrospective Studies Infant Genotype Nuclear Proteins Repressor Proteins
KDM5 epigenetics genetic syndromes histone demethylation intellectual disabilities neurodevelopmental disorders polygenetic interactions

Journal

Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097

Informations de publication

Date de publication:
06 Aug 2024
Historique:
received: 16 06 2024
revised: 24 07 2024
accepted: 29 07 2024
medline: 1 9 2024
pubmed: 31 8 2024
entrez: 29 8 2024
Statut: epublish

Résumé

Bi-allelic disruptive variants (nonsense, frameshift, and splicing variants) in

Identifiants

DOI: 10.3390/genes15081033 PMID: 39202393
pubmed: 39202393
pii: genes15081033
doi: 10.3390/genes15081033
pii:
doi:

Substances chimiques

Jumonji Domain-Containing Histone Demethylases EC 1.14.11.-
KDM5B protein, human EC 1.14.11.-
Nuclear Proteins 0
Repressor Proteins 0

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : NICHD NIH HHS
ID : K23 HD102589
Pays : United States
Organisme : NHGRI NIH HHS
ID : UM1HG007301
Pays : United States

Auteurs

Maria Carla Borroto (MC)

Centre de Recherche Azrieli du CHU Sainte-Justine, University of Montreal, Montreal, QC H3T 1C5, Canada.

Coralie Michaud (C)

Centre de Recherche Azrieli du CHU Sainte-Justine, University of Montreal, Montreal, QC H3T 1C5, Canada.

Chloé Hudon (C)

Centre de Recherche Azrieli du CHU Sainte-Justine, University of Montreal, Montreal, QC H3T 1C5, Canada.

Pankaj B Agrawal (PB)

The Manton Center for Orphan Disease Research, Divisions of Newborn Medicine and of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
ORCID: 0000-0003-3255-0456

Katherine Agre (K)

Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55902, USA.

Carolyn D Applegate (CD)

Department of Genetic Medicine, McKusick-Nathans Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
ORCID: 0000-0002-9323-3887

Alan H Beggs (AH)

The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
ORCID: 0000-0001-8818-0568

Hans T Bjornsson (HT)

Department of Genetic Medicine, McKusick-Nathans Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Louma G. Laboratory of Epigenetic Research, Faculty of Medicine, University of Iceland, 101 Reykjavik, Iceland.
Department of Genetics and Molecular Medicine, Landspitali University Hospital, 101 Reykjavik, Iceland.

Bert Callewaert (B)

Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium.
ORCID: 0000-0002-9743-4205

Mei-Jan Chen (MJ)

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.

Cynthia Curry (C)

Genetic Medicine, University of California San Francisco/Fresno, Fresno, CA 93701, USA.

Orrin Devinsky (O)

Departments of Neurology, Neuroscience, Neurosurgery and Psychiatry, NYU School of Medicine, New York, NY 10016, USA.
ORCID: 0000-0003-0044-4632

Tracy Dudding-Byth (T)

Hunter Genetics, Newcastle, NSW 2298, Australia.

Kelly Fagan (K)

UCSF Benioff Children's Hospital, San Francisco, CA 93940, USA.

Candice R Finnila (CR)

HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL 35806, USA.

Ralitza Gavrilova (R)

Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55902, USA.
Department of Neurology, Mayo Clinic, Rochester, MN 55902, USA.

Casie A Genetti (CA)

The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.

Susan M Hiatt (SM)

HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL 35806, USA.

Friedhelm Hildebrandt (F)

Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.

Monica H Wojcik (MH)

The Manton Center for Orphan Disease Research, Divisions of Newborn Medicine and of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
ORCID: 0000-0002-8162-5031

Tjitske Kleefstra (T)

Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.

Caroline M Kolvenbach (CM)

Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, 53127 Bonn, Germany.

Bruce R Korf (BR)

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.

Paul Kruszka (P)

GeneDx LLC, Gaithersburg, MD 20877, USA.
ORCID: 0000-0003-4949-0875

Hong Li (H)

Department of Human Genetics, School of Medicine, Emory University, Atlanta, GA 30322, USA.

Jessica Litwin (J)

Department of Neurology, University of California, San Francisco Benioff Children's Hospital, San Francisco, CA 94158, USA.

Julien Marcadier (J)

Division of Medical Genetics, Alberta Children's Hospital, Calgary, AB T3B 6A8, Canada.

Konrad Platzer (K)

Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.
ORCID: 0000-0001-6127-6308

Patrick R Blackburn (PR)

Department of Pathology, St. Jude Children's Hospital, Memphis, TN 38105, USA.

Margot R F Reijnders (MRF)

Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.

Heiko Reutter (H)

Institute of Human Genetics, University Hospital of Bonn, 53127 Bonn, Germany.
ORCID: 0000-0002-3591-5265

Ina Schanze (I)

Institute of Human Genetics, 39120 Magdeburg, Germany.

Joseph T Shieh (JT)

Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco Benioff Childen's Hospital, San Francisco, CA 94143, USA.

Cathy A Stevens (CA)

Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, TN 38103, USA.

Zaheer Valivullah (Z)

Center for Mendelian Genomics, Broad Institute Harvard, Cambridge, MA 02142, USA.

Marie-José van den Boogaard (MJ)

Department of Genetics, University Medical Centre Utrecht, P.O. Box 85500, 3508 GA Utrecht, The Netherlands.
ORCID: 0000-0002-3100-9337

Eric W Klee (EW)

Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55902, USA.
Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN 55902, USA.
ORCID: 0000-0003-2946-5795

Philippe M Campeau (PM)

Centre de Recherche Azrieli du CHU Sainte-Justine, University of Montreal, Montreal, QC H3T 1C5, Canada.
ORCID: 0000-0001-9713-7107

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › A Genotype/Phenotype Study of
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation faux-sens › A Genotype/Phenotype Study of
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Oxidoreductases › Oxygénases › Dioxygenases › Jumonji Domain-Containing Histone Demethylases › A Genotype/Phenotype Study of
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › A Genotype/Phenotype Study of
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Enfant d'âge préscolaire › A Genotype/Phenotype Study of
questionsmedicales.fr › Phénomènes génétiques › Phénotype › A Genotype/Phenotype Study of
questionsmedicales.fr › Personnes › Tranches d'âge › Adolescent › A Genotype/Phenotype Study of
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › A Genotype/Phenotype Study of
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Études d'associations génétiques › A Genotype/Phenotype Study of
questionsmedicales.fr › Troubles mentaux › Troubles du développement neurologique › Déficience intellectuelle › A Genotype/Phenotype Study of
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Caractéristiques des études épidémiologiques › Études épidémiologiques › Études de cohortes › Études rétrospectives › A Genotype/Phenotype Study of
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › A Genotype/Phenotype Study of
questionsmedicales.fr › Phénomènes génétiques › Génotype › A Genotype/Phenotype Study of
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines nucléaires › A Genotype/Phenotype Study of
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Facteurs de transcription › Protéines de répression › A Genotype/Phenotype Study of